esv2830029
- Organism: Homo sapiens
- Study:estd206 (Nagirnaja et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:97,742
- Description:FREQ_IN_CASES=1/43
- Publication(s):Nagirnaja et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 479 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 479 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 16 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv2830029 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 76,881,599 | 76,979,340 |
esv2830029 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 76,915,496 | 77,013,237 |
esv2830029 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 75,472,997 | 75,570,738 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
---|---|---|---|---|---|
essv7099446 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv7099446 | Remapped | Perfect | NC_000016.10:g.(?_ 76881599)_(7697934 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,881,599 | 76,979,340 |
essv7099446 | Remapped | Perfect | NC_000016.9:g.(?_7 6915496)_(77013237 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 76,915,496 | 77,013,237 |
essv7099446 | Submitted genomic | NC_000016.8:g.(?_7 5472997)_(75570738 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 75,472,997 | 75,570,738 |